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January 1, 2026Open Access

Identification of a novel PLS1 heterozygous variant causing autosomal dominant nonsyndromic hearing loss

杨晨曦(Chenxi Yang)

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Key Points

The research aims to identify genetic variants associated with autosomal dominant nonsyndromic hearing loss.
Conducted clinical exome sequencing on patients with congenital non-syndromic deafness.
Analyzed variant data to identify potential pathogenic mutations.
Identified a novel heterozygous variant in the PLS1 gene associated with hearing loss.
Found clinical significance in at least one deaf patient with the variant.

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Implication

Clinical exome sequencing reveals a novel variant causing nonsyndromic hearing loss in patients, suggesting new genetic insights.

Abstract

Variant data from clinical exome sequencing in patients with congenital non-syndromic deafness, including one deaf patient

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Cite This Study

杨晨曦(Chenxi Yang) (2026) studied this question.

synapsesocial.com/papers/6969d428940543b9777090d1 https://doi.org/10.26036/cnp0008613

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